Literature DB >> 4018793

9p Trisomy/18p distal monosomy and multiple cutaneous leiomyomata. Another specific chromosomal site (18pter) in dominantly inherited multiple tumors?

J P Fryns, M Haspeslagh, A de Mûelenaere, H van Den Berghe.   

Abstract

In this report a severely mentally retarded adult female with 9p trisomy/18pter monosomy is described. In addition to a 9p trisomy phenotype this patient presented with multiple cutaneous leiomyomata. The question is raised whether the concurrence of the chromosomal anomaly and the multiple skin tumors in this patient indicates another example of a specific chromosomal deletion (18pter) in a dominantly inherited multiple human tumor.

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Year:  1985        PMID： 4018793     DOI： 10.1007/bf00273459

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  5 in total

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5.  Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14.

Authors:  R S Sparkes; M C Sparkes; M G Wilson; J W Towner; W Benedict; A L Murphree; J J Yunis
Journal:  Science       Date:  1980-05-30       Impact factor: 47.728
  5 in total
  6 in total

1.  Disseminated peritoneal leiomyomatosis. Clonality analysis by X chromosome inactivation and cytogenetics of a clinically benign smooth muscle proliferation.

Authors:  B J Quade; C M McLachlin; V Soto-Wright; J Zuckerman; G L Mutter; C C Morton
Journal:  Am J Pathol       Date:  1997-06       Impact factor: 4.307

2.  Maternal translocation (9;18) with two abnormal offspring each with different chromosome derivatives.

Authors:  M Pearson; C Riske; J E Allanson
Journal:  J Med Genet       Date:  1989-10       Impact factor: 6.318

3.  Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology.

Authors:  M Kiuru; V Launonen; M Hietala; K Aittomäki; O Vierimaa; R Salovaara; J Arola; E Pukkala; P Sistonen; R Herva; L A Aaltonen
Journal:  Am J Pathol       Date:  2001-09       Impact factor: 4.307

4.  Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43.

Authors:  N A Alam; S Bevan; M Churchman; E Barclay; K Barker; E E Jaeger; H M Nelson; E Healy; A C Pembroke; P S Friedmann; K Dalziel; E Calonje; J Anderson; P J August; M G Davies; R Felix; C S Munro; M Murdoch; J Rendall; S Kennedy; I M Leigh; D P Kelsell; I P Tomlinson; R S Houlston
Journal:  Am J Hum Genet       Date:  2001-03-14       Impact factor: 11.025

5.  Excess of mental retardation and/or congenital malformation in reciprocal translocations in man.

Authors:  J P Fryns; A Kleczkowska; E Kubień; H Van den Berghe
Journal:  Hum Genet       Date:  1986-01       Impact factor: 4.132

6.  Crusted Piloleiomyoma with mental retardation: a rare association.

Authors:  Sangeeta Kamboj; Raj Kumar Sharma; Amit Kumar; Shyam Sundar Chaudhary; Vir Kumar Jain
Journal:  Indian J Dermatol       Date:  2009       Impact factor: 1.494
  6 in total

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